{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Devecchi A"],"funding":["Associazione Italiana Ricerca Cancro"],"pagination":["70"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6260689"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["38(1)"],"pubmed_abstract":["<h4>Background</h4>Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1 (EWSR1)-Wilm's tumor suppressor (WT1) translocation. We used whole-exome sequencing to interrogate six consecutive pre-treated DSRCTs whose gene expression was previously investigated.<h4>Methods</h4>DNA libraries were prepared from formalin-fixed, paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500. Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm. Somatic mutations and copy number alterations (CNAs) were identified using MuTect2 and EXC"],"journal":["Cancer communications (London, England)"],"pubmed_title":["The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response."],"pmcid":["PMC6260689"],"funding_grant_id":["IG2013 14102"],"pubmed_authors":["Pilotti S","Dagrada G","Stacchiotti S","Penso D","Devecchi A","Brich S","Dugo M","Sensi M","De Cecco L","Canevari S"],"additional_accession":[]},"is_claimable":false,"name":"The genomics of desmoplastic small round cell tumor reveals the deregulation of genes related to DNA damage response, epithelial-mesenchymal transition, and immune response.","description":"<h4>Background</h4>Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive, and poorly investigated simple sarcoma with a low frequency of genetic deregulation other than an Ewing sarcoma RNA binding protein 1 (EWSR1)-Wilm's tumor suppressor (WT1) translocation. We used whole-exome sequencing to interrogate six consecutive pre-treated DSRCTs whose gene expression was previously investigated.<h4>Methods</h4>DNA libraries were prepared from formalin-fixed, paraffin-embedded archival tissue specimens following the Agilent SureSelectXT2 target enrichment protocol and sequenced on Illumina NextSeq 500. Raw sequence data were aligned to the reference genome with Burrows-Wheeler Aligner algorithm. Somatic mutations and copy number alterations (CNAs) were identified using MuTect2 and EXC","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Nov","modification":"2026-07-09T11:34:53.339Z","creation":"2026-07-09T10:49:02.137Z"},"accession":"S-EPMC6260689","cross_references":{"pubmed":["30486883"],"doi":["10.1186/s40880-018-0339-3"]}}